Genetic variant discovery in a patient suspected with inborn errors of immunity by computational analyses / Chear Chai Teng
The NLR family caspase recruitment domain-containing protein 4 (NLRC4) is involved in mediating innate inflammatory response. Mutations in NLRC4 have been shown to cause autoinflammatory disorder (AID). In this study, a twelve-year-old girl suspected of having AID was investigated. To investigate th...
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| フォーマット: | 学位論文 |
| 出版事項: |
2022
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